Bronstein Michal, Pisanté Anne, Yakir Benjamin, Darvasi Ariel
Department of Genetics, The Hebrew University of Jerusalem, 91904, Jerusalem, Israel.
Hum Genet. 2008 Aug;124(1):101-4. doi: 10.1007/s00439-008-0520-x. Epub 2008 May 31.
Until last year, type 2 diabetes (T2D) susceptibility loci have hardly been identified, despite great effort. Recently, however, several whole-genome association (WGA) studies jointly uncovered 10 robustly replicated loci. Here, we examine these loci in the Ashkenazi Jewish (AJ) population in a sample of 1,131 cases versus 1,147 controls. Genetic predisposition to T2D in the AJ population was found similar to that established in the previous studies. One SNP, rs7754840 in the CDKAL1 gene, presented a significantly stronger effect in the AJ population as compared to the general Caucasian population. This may possibly be due to the increased homogeneity of the AJ population. The use of the SNPs considered in this study, to identify individuals at high (or low) risk to develop T2D, was found of limited value. Our study, however, strongly supports the robustness of WGA studies for the identification of genes affecting complex traits in general and T2D in particular.
直到去年，尽管付出了巨大努力，2型糖尿病（T2D）的易感基因座仍几乎未被识别出来。然而，最近几项全基因组关联（WGA）研究共同发现了10个得到有力验证的基因座。在此，我们在1131例患者与1147例对照组成的样本中，对阿什肯纳兹犹太（AJ）人群中的这些基因座进行了研究。结果发现，AJ人群中T2D的遗传易感性与先前研究中确定的情况相似。与一般高加索人群相比，CDKAL1基因中的一个单核苷酸多态性（SNP），即rs7754840，在AJ人群中表现出显著更强的效应。这可能是由于AJ人群的同质性增加所致。研究发现，使用本研究中所考虑的SNP来识别患T2D风险高（或低）的个体，价值有限。然而，我们的研究有力地支持了WGA研究在识别影响复杂性状（尤其是T2D）的基因方面的可靠性。
